NEET PG / USMLE – MCQ 21

A 4-year-old boy has delayed motor development and choreoathetosis. He had normal development at birth. He chews his fingers and lips, which has resulted in tissue loss. He has arthritis. Serum and urine uric acid concentrations are increased. Which of the following abnormalities is the most likely cause of these findings?
(A) Adenine phosphoribosyltransferase deficiency
(B) Hypoxanthine-guanine phosphoribosyltransferase deficiency
(C) Increased cellular turnover of nucleic acids
(D) Increased conversion of hypoxanthine to inosine monophosphate
(E) Phosphoribosylpyrophosphate synthetase deficiency

the syndrome in question here is leesch-nyhan syndrome which is characterised by HGPRT deficiency which is characterised by self mutilation n choreoathetosis, arthritis.it is characterised by increased levels of uric acid which can cause gout

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Dr. Johnson Francis

MD, DM, FACC, FRCP London

Senior Consultant Interventional Cardiologist & Former Professor of Cardiology. Founder and Emeritus Editor of Indian Pacing and Electrophysiology Journal. Co-editor of: "Leo Schamroth - An Introduction to Electrocardiography", Eighth Adapted Edition. Peer Reviewer for 15 International Journals including The Journal of American College of Cardiology and Heart Rhythm. Published more than forty articles in reputed journals. International Editorial Board Member, Europace, the official Journal of European Heart Rhythm Association.

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